Objective:

To improve time to diagnosis in Duchenne muscular dystrophy (DMD). 

Background:

DMD is the most common childhood onset muscular dystrophy. Signs and symptoms of muscle weakness are always present before age 5; yet the average age of diagnosis in the US is 5 years. Muscle degeneration begins prior to birth and serum CK is elevated at birth. Cognitive and behavioral co-morbidities occur in ~1/3 of children with DMD. Early initiation of multidisciplinary standard of care, corticosteroids, and recently approved gene-based therapies can have a profound impact on delaying loss of ambulation, improving quality of life and survival. 

Design/Methods:

A group of expert clinicians convened to develop an easy to administer tool to facilitate earlier diagnosis of DMD. The goal was to develop a set of simple screening questions and exam findings that would be high yield in identifying children at high risk for DMD. This tool should be employed at the 30 month well child visit and should not add significant time to the visit. 

Results:

There are 3 clinical yes/no questions (did your child have difficulty walking at 24 months?, does your child have difficulty running?, and does your child have difficulty climbing stairs?) and 2 clinical observations (is there difficulty rising from the floor and are the calves enlarged?). 

Conclusions:

Any positive response or abnormal clinical observation should result in a creatine kinase level being ordered. If the CK level is elevated, additional diagnostic testing will be pursued. Earlier diagnosis will result in earlier initiation of treatments designed to prolong muscle function and interventions to reduce cognitive and behavioral co-morbidities. Implementation of this simple tool may lead to significantly earlier screening with CK, diagnosis confirmation by genetic testing, and improved outcomes in DMD. This tool will be implemented in a general pediatrics clinic in late 2024.